Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal enchondral ossification (HP:0003336)

Grandparent Node:
Abnormal vertebral morphology (HP:0003468)

Parent Node:
Abnormally ossified vertebrae (HP:0100569)

..Starting node
..Absent or minimally ossified vertebral bodies (HP:0004599)

Term ID:

4599

Name:

Absent or minimally ossified vertebral bodies

Synonym:

Definition:

Comments:

Reference:

HP:0004599

Genes and Diseases:

Child Nodes:

........

Absent vertebral body mineralization (HP:0004605)

........

Unossified vertebral bodies (HP:0004606)

................... HP:0008435 Absent in utero ossification of vertebral bodies

........

Absent ossification of cervical vertebral bodies (HP:0005885)

........

Absent ossification of thoracic vertebral bodies (HP:0012792)

........

Poorly ossified vertebrae (HP:0100856)

................... HP:0008477 Poorly ossified cervical vertebrae

Sister Nodes:

Delayed ossification of vertebral epiphysis (HP:0012711)

Delayed vertebral ossification (HP:0031096)

Supernumerary vertebral ossification centers (HP:0004598)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0004599	HP:0004599	Absent or minimally ossified vertebral bodies	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0004599	HP:0012792	Absent ossification of thoracic vertebral bodies	1	CL E G H
HP:0004599	HP:0005885	Absent ossification of cervical vertebral bodies	1	CL E G H
HP:0004599	HP:0004606	Unossified vertebral bodies	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0004599	HP:0004606	Unossified vertebral bodies	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0004599	HP:0004605	Absent vertebral body mineralization	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0004599	HP:0004605	Absent vertebral body mineralization	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0004599	HP:0100856	Poorly ossified vertebrae	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0004599	HP:0100856	Poorly ossified vertebrae	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0004599	HP:0100856	Poorly ossified vertebrae	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0004599	HP:0004606	Unossified vertebral bodies	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0004599	HP:0100856	Poorly ossified vertebrae	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0004599	HP:0008435	Absent in utero ossification of vertebral bodies	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0004599	HP:0008477	Poorly ossified cervical vertebrae	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0004599	HP:0008477	Poorly ossified cervical vertebrae	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109

Genes (14) :ALPL BMPER COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 FLNB IFT80 LBR SLC26A2 SOX9 TRIP11 VPS35L WDR35

Diseases (14) :OMIM:241500 ORPHA:66637 OMIM:608022 ORPHA:93296 OMIM:200610 ORPHA:93271 ORPHA:1190 ORPHA:1263 OMIM:215140 OMIM:600972 OMIM:114290 ORPHA:140 OMIM:200600 OMIM:619135

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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